Paralogue Annotation for ANK2 residue 1824

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1824
Reference Amino Acid: V - Valine
Protein Domain: Repeat-rich region

Paralogue Variants mapped to ANK2 residue 1824

No paralogue variants have been mapped to residue 1824 for ANK2.

ANK2	---------SAKTERHPPVSPSSKTEKHSP>V<SPSAKTERHSPASSSSKTEKHSPVSPSTKT	1854
ANK1	------------------------------>-<------------------------------
ANK3	TILESPDDFSQHDQDKSPLSDSGFETRSEK>T<PSAPQSAESTGPKPLFHEVPIPPVITETRT	2167
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1824E	c.5471T>A	Putative Benign		rs141212932	SIFT: Polyphen: benign
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510